NM_015506.3(MMACHC):c.315C>G (p.Tyr105Ter) AND Cobalamin C disease
- Germline classification:
- Pathogenic (3 submissions)
- Last evaluated:
- Jan 7, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000669305.5
Allele description [Variation Report for NM_015506.3(MMACHC):c.315C>G (p.Tyr105Ter)]
NM_015506.3(MMACHC):c.315C>G (p.Tyr105Ter)
Condition(s)
- Name:
- Cobalamin C disease
- Synonyms:
- Cobalamin-C methylmalonic acidemia and homocystinuria; Methylmalonic acidemia and homocystinuria cblC type; Methylmalonic aciduria and homocystinuria, Vitamin B12-responsive; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0010184; MedGen: C1848561; Orphanet: 26; Orphanet: 79282; OMIM: 277400
-
NADH dehydrogenase subunit 6 (mitochondrion) [Procypris rabaudi]
NADH dehydrogenase subunit 6 (mitochondrion) [Procypris rabaudi]gi|197935808|gnl|NCBI_MITO|ND6_2285 |YP_002213577.1|Protein
-
Aliivibrio salmonicida LFI1238 chromosome 2, complete sequence
Aliivibrio salmonicida LFI1238 chromosome 2, complete sequencegi|209808847|ref|NC_011313.1|Nucleotide
-
NADH dehydrogenase subunit 4 (mitochondrion) [Osteoglossum bicirrhosum]
NADH dehydrogenase subunit 4 (mitochondrion) [Osteoglossum bicirrhosum]gi|15451827|gnl|NCBI_MITO|ND4_15777 NP_203710.1|Protein
-
Candida corydali ATCC MYA-4357 28S rRNA, partial sequence; from TYPE material
Candida corydali ATCC MYA-4357 28S rRNA, partial sequence; from TYPE materialgi|913748684|ref|NG_042501.1|Nucleotide
-
Dmrt1 [Osteoglossum bicirrhosum]
Dmrt1 [Osteoglossum bicirrhosum]gi|2449927727|gb|WDV16819.1|Protein
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Sep 29, 2024